Results
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41.
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Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1). [electronic resource] by
- Spritz, R A
- Oh, J
- Fukai, K
- Holmes, S A
- Ho, L
- Chitayat, D
- France, T D
- Musarella, M A
- Orlow, S J
- Schnur, R E
- Weleber, R G
- Levin, A V
Producer: 19970930
In:
Human mutation vol. 10
Availability: No items available.
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42.
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Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. [electronic resource] by
- Buraczynska, M
- Wu, W
- Fujita, R
- Buraczynska, K
- Phelps, E
- Andréasson, S
- Bennett, J
- Birch, D G
- Fishman, G A
- Hoffman, D R
- Inana, G
- Jacobson, S G
- Musarella, M A
- Sieving, P A
- Swaroop, A
Producer: 19980319
In:
American journal of human genetics vol. 61
Availability: No items available.
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43.
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Analysis of three deletion breakpoints in Xp21.1 and the further localization of RP3. [electronic resource] by
- Brown, J
- Dry, K L
- Edgar, A J
- Pryde, F E
- Hardwick, L J
- Aldred, M A
- Lester, D H
- Boyle, S
- Kaplan, J
- Dufier, J L
- Ho, M F
- Monaco, A M
- Musarella, M A
- Wright, A F
Producer: 19970206
In:
Genomics vol. 37
Availability: No items available.
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44.
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Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. [electronic resource] by
- Bech-Hansen, N T
- Naylor, M J
- Maybaum, T A
- Sparkes, R L
- Koop, B
- Birch, D G
- Bergen, A A
- Prinsen, C F
- Polomeno, R C
- Gal, A
- Drack, A V
- Musarella, M A
- Jacobson, S G
- Young, R S
- Weleber, R G
Producer: 20001213
In:
Nature genetics vol. 26
Availability: No items available.
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45.
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Mutation analysis of 3 genes in patients with Leber congenital amaurosis. [electronic resource] by
- Lotery, A J
- Namperumalsamy, P
- Jacobson, S G
- Weleber, R G
- Fishman, G A
- Musarella, M A
- Hoyt, C S
- Héon, E
- Levin, A
- Jan, J
- Lam, B
- Carr, R E
- Franklin, A
- Radha, S
- Andorf, J L
- Sheffield, V C
- Stone, E M
Producer: 20000417
In:
Archives of ophthalmology (Chicago, Ill. : 1960) vol. 118
Availability: No items available.
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46.
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Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree. [electronic resource] by
- Richards, J E
- Ritch, R
- Lichter, P R
- Rozsa, F W
- Stringham, H M
- Caronia, R M
- Johnson, D
- Abundo, G P
- Willcockson, J
- Downs, C A
- Thompson, D A
- Musarella, M A
- Gupta, N
- Othman, M I
- Torrez, D M
- Herman, S B
- Wong, D J
- Higashi, M
- Boehnke, M
Producer: 19981013
In:
Ophthalmology vol. 105
Availability: No items available.
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47.
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OA1 mutations and deletions in X-linked ocular albinism. [electronic resource] by
- Schnur, R E
- Gao, M
- Wick, P A
- Keller, M
- Benke, P J
- Edwards, M J
- Grix, A W
- Hockey, A
- Jung, J H
- Kidd, K K
- Kistenmacher, M
- Levin, A V
- Lewis, R A
- Musarella, M A
- Nowakowski, R W
- Orlow, S J
- Pagon, R S
- Pillers, D A
- Punnett, H H
- Quinn, G E
- Tezcan, K
- Wagstaff, J
- Weleber, R G
Producer: 19980610
In:
American journal of human genetics vol. 62
Availability: No items available.
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